Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8793987 | Ophthalmology | 2018 | 10 Pages |
Abstract
Our AJ cohort of RP patients is the largest reported to date and showed a substantial difference in the genetic causes of RP compared with cohorts of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition of causative genes. The most common RP-causing genes in our cohort, MAK and DHDDS, were not described as major causative genes in other populations. The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations.
Keywords
MAFNLPffERGAshkenazi JewishIRDBCVAWESRetinitis pigmentosaFAFONLERGEOGBSPRPEmAKfluorescein angiographyAutosomal DominantAutosomal recessivelight perceptionelectroretinographyelectro-oculographyretinal pigment epitheliumbest-corrected visual acuityWhole exome sequencingVisual acuityHand movementinherited retinal degenerationFinger countingfundus autofluorescenceminor allele frequencyouter nuclear layerX-linkedVisual fieldno light perception
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Authors
Adva MSc, Samer MD, PhD, Rong MD, PhD, Ziqiang PhD, Alexey MD, PhD, Avigail MSc, Shoshi MSc, Anat PhD, Eran MD, Samuel G. MD, PhD, Tamar PhD, Hadas MD, Dror PhD, Eyal MD, PhD,